Berg, Jonathan

Dr

  • United Kingdom

  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
20072020

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  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., Short, P. J., Torene, R. I., de Boer, E., Danecek, P., Gardner, E. J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M. R. F. & 12 others, Yeung, A., Yntema, H. G., Vissers, L. E. L. M., Juusola, J., Wright, C. F., Brunner, H. G., Firth, H. V., Fitzpatrick, D. R., Barrett, J. C., Hurles, M. E., Gilissen, C. & Retterer, K., 14 Oct 2020, In : Nature. 13 p.

    Research output: Contribution to journalArticlepeer-review

  • Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes

    Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I., Dean, J., Shannon, N., Berg, J., Holder, S., Baralle, D., Clayton-Smith, J. & Deciphering Developmental Disorders (DDD) Study, 19 Mar 2020, In : Archives of Disease in Childhood. 105, 4, p. 384-389 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    File
    156 Downloads (Pure)
  • Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

    Deciphering Developmental Disorders (DDD) Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    File
    1 Citation (Scopus)
    75 Downloads (Pure)
  • De novo and biallelic DEAF1 variants cause a phenotypic spectrum

    Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

    Research output: Contribution to journalArticlepeer-review

    4 Citations (Scopus)
  • Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Deciphering Developmental Disorders (DDD) Study, Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U. & 33 others, Joss, S., von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Citations (Scopus)
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